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Article

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Genome biology - 7 Jul 2025

Brünger Tobias, Ivaniuk Alina, Pérez-Palma Eduardo, Montanucci Ludovica, Cohen Stacey, Smith Lacey, Parthasarathy Shridhar, Helbig Ingo, Nothnagel Michael, May Patrick, Lal Dennis

Abstract excerpt

BACKGROUND: The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Prior research shows that the deleterious effects and the subsequent molecular consequences of variants are often conserved among paralogous protein sequences within a gene family. Here, we systematically quantify on an exome-wide scale whether the existence of pathogenic variants in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40624578
DOI: 10.1186/s13059-025-03663-x
PMCID: PMC12235991

Genes

SCN1A
SCN2A
SCN5A
SCN8A

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